邻苯二酚-O-甲基转移酶
药物遗传学
rs4680型
基因型
多态性(计算机科学)
等位基因
遗传学
生物
甲基转移酶
基因多态性
基因
甲基化
作者
Herbert M. Lachman,Demitri F. Papolos,Takuya Saito,Yue-Min Yu,Carol L. Szumlanski,Richard M. Weinshilboum
出处
期刊:Pharmacogenetics
[Ovid Technologies (Wolters Kluwer)]
日期:1996-06-01
卷期号:6 (3): 243-250
被引量:1770
标识
DOI:10.1097/00008571-199606000-00007
摘要
Catechol-O-methyltransferase (COMT) inactivates catecholamines and catechol drugs such as L-DOPA. A common genetic polymorphism in humans is associated with a three-to-four-fold variation in COMT enzyme activity and is also associated with individual variation in COMT thermal instability. We now show that this is due to G-->A transition at codon 158 of the COMT gene that results in a valine to methionine substitution. The two alleles can be identified with a PCR-based restriction fragment length polymorphism analysis using the restriction enzyme Nla III. The identification of a gentic marker associated with significant alterations in enzyme activity will facilitate the analysis of a possible role for the COMT gene in neuropsychiatric conditions in which abnormalities in catecholamine neurotransmission are believed to occur, including mood disorders, schizophrenia, obsessive compulsive disorder, alcohol and substance abuse, and attention deficit hyperactivity disorder. In addition, this polymorphism may have pharmacogenetic significance in that it will help make it possible to identify patients who display altered metabolism of catechol drugs.
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